Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
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Laabs Björn-Hergen, Lohmann Katja, Vollstedt Eva-Juliane, Reinberger Tobias, Nuxoll Lisa-Marie, Kilic-Berkmen Gamze, Perlmutter Joel S, Loens Sebastian, Cruchaga Carlos, Franke Andre, Dobricic Valerija, Hinrichs Frauke, Grözinger Anne, Altenmüller Eckart, Bellows Steven, Boesch Sylvia, Bressman Susan B, Duque Kevin R, Espay Alberto J, Ferbert Andreas, Feuerstein Jeanne S, Frank Samuel, Gasser Thomas, Haslinger Bernhard, Jech Robert, Kaiser Frank, Kamm Christoph, Kollewe Katja, Kühn Andrea A, LeDoux Mark S, Lohmann Ebba, Mahajan Abhimanyu, Münchau Alexander, Multhaupt-Buell Trisha, Pantelyat Alexander, Pirio Richardson Sarah E, Raymond Deborah, Reich Stephen G, Saunders Pullman Rachel, Schormair Barbara, Sharma Nutan, Sichani Azadeh Hamzehei, Simonyan Kristina, Volkmann Jens, Wagle Shukla Aparna, Winkelmann Juliane, Wright Laura J, Zech Michael, Zeuner Kirsten E, Zittel Simone, Kasten Meike, Sun Yan V, Bäumer Tobias, Brüggemann Norbert, Ozelius Laurie J, Jinnah Hyder A, Klein Christine, König Inke R
Аннотация
OBJECTIVE: The objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia.
METHODS: Array-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation.
RESULTS: This GWAS identified no common genome-wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small.
CONCLUSIONS: Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.